Canonical Allele Identifier: CA361622687

Gene: POU4F3

Linked Data

• gnomAD v4: 5-146340268-A-C
• MyVariant Identifiers: chr5:g.145719831A>C (hg19) ; chr5:g.146340268A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340268A>C , CM000667.2:g.146340268A>C	GRCh38
NC_000005.9:g.145719831A>C , CM000667.1:g.145719831A>C	GRCh37
NC_000005.8:g.145700024A>C	NCBI36
NG_011885.1:g.6245A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.841A>C MANE Select	ENSP00000495718.1:p.Ile281Leu
ENST00000230732.4:c.841A>C	ENSP00000230732.4:p.Ile281Leu
NM_002700.2:c.841A>C	NP_002691.1:p.Ile281Leu
NM_002700.3:c.841A>C MANE Select	NP_002691.1:p.Ile281Leu